|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in the TSHR gene can cause congenital hypothyroidism.
|
16320156 |
2005 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
In this paper, we aimed to investigate the actual role of the TSHR gene in the development of both subclinical and congenital hypothyroidism.
|
16060907 |
2005 |
|
Congenital Hypothyroidism
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism.
|
15863666 |
2005 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis.
|
14725684 |
2004 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A review of all previously reported cases of NAH due to an activating TSHR germline mutation showed that the mean duration of gestation in these patients was significantly lower than in patients with inactivating TSHR mutations causing congenital hypothyroidism (35.8 weeks vs. 39.4 weeks, P = 0.003).
|
15163335 |
2004 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene.
|
12629076 |
2003 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
CTD_human |
In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene.
|
12629076 |
2003 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
However, mutations in TTF-1, TTF-2, PAX8 and TSHR are found in <10% of patients with congenital hypothyroidism and these predominantly have orthotopic thyroid hypoplasia, often associated with other malformations.
|
12786749 |
2003 |
|
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
We report here a familial case of congenital hypothyroidism, transmitted as a recessive trait, and caused by a homozygous mutation in the thyrotropin receptor (TSH-R).
|
11716047 |
2001 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive inheritance of mutations of the thyroid-stimulating hormone receptor gene was recognized in patients with CH and thyroid hypoplasia, while autosomal dominant mutations of the Pax-8 gene were described in patients with thyroid dysgenesis.
|
10895037 |
2000 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This is the first time that a loss of function mutation of the TSH receptor is described in a patient with severe congenital hypothyroidism and absent circulating thyroglobulin due to TSH unresponsiveness and the first time that an inactivating mutation of the TSH receptor is described in the first extracellular loop.
|
10720030 |
2000 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis.
|
10102047 |
1999 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations of the TSH receptor are responsible for different phenotypes ranging from asymptomatic resistance to TSH to overt congenital hypothyroidism.
|
10698593 |
1999 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Transplacental passage of a maternal thyrotropin receptor blocking antibody (TRB-Ab) causes a transient form of familial congenital hypothyroidism.
|
10447022 |
1999 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
|
9185526 |
1997 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we screened for mutations in the TSHR gene in patients with congenital hypothyroidism and hypoplasia of the gland.
|
9329388 |
1997 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our conclusion is that if mutation of the TSHR gene causes familial congenital hypothyroidism in humans, it affects only a small proportion of the cases.
|
9048917 |
1997 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Beside defects of thyroglobulinsynthesis, defects of the sodium-iodide-transporter or the TSH-receptor, a defect of the thyroidperoxidase, the key-enzyme of thyroid hormone biosynthesis, can cause a total iodide organification defect and thereby congenital hypothyroidism.
|
8981018 |
1996 |
|
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The screening of TSHR gene mutations by SSCP in a well defined cohort of 100 children with congenital hypothyroidism (CH), diagnosed and followed since 1978 in the Childrens Hospital of Berlin, revealed one patient with hypoplasia of the thyroid to be positive for two compound heterozygote inactivating mutations of the TSHR gene, indicating thereby that the clinical approach to define phenotypes of interest could be helpful to understand the fundamental process of thyroid development.
|
8981017 |
1996 |
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|